A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv693448



Internal ID15430100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:141212346..141226238hg38UCSC Ensembl
Innerchr8:142222445..142236337hg19UCSC Ensembl
Innerchr8:142291627..142305519hg18UCSC Ensembl
Innerchr8:142291627..142305519hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3813893
hg1913893
hg1813893
hg1713893
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516666
Supporting Variants
Samples
Known GenesSLC45A4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv693448
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer